A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5546467



Internal ID320415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:46276779..46276832hg38UCSC Ensembl
chr13:46850914..46850967hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687470
Samples
Known GenesLRRC63
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5546467
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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